{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T00:13:44Z","timestamp":1769127224012,"version":"3.49.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2012,9,13]],"date-time":"2012-09-13T00:00:00Z","timestamp":1347494400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2013,1]]},"DOI":"10.1038\/jhg.2012.111","type":"journal-article","created":{"date-parts":[[2012,9,13]],"date-time":"2012-09-13T06:27:31Z","timestamp":1347517651000},"page":"3-6","source":"Crossref","is-referenced-by-count":24,"title":["Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin"],"prefix":"10.1038","volume":"58","author":[{"given":"Irene","family":"Paradisi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vassiliki","family":"Ikonomu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio","family":"Arias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,9,13]]},"reference":[{"key":"BFjhg2012111_CR1","doi-asserted-by":"publisher","first-page":"1385","DOI":"10.1086\/324414","volume":"69","author":"RC Moore","year":"2001","unstructured":"Moore, R. C., Xiang, F., Monaghan, J., Han, D., Zhang, Z., Edstr\u00f6m, L. et al. Huntington disease phenocopy is a familial prion disease. Am. J. Hum. Genet. 69, 1385\u20131388 (2001).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg2012111_CR2","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1038\/ng760","volume":"29","author":"SE Holmes","year":"2001","unstructured":"Holmes, S. E., O\u2019Hearn, E., Rosenblatt, A., Callahan, C., Hwang, H. S., Ingersoll-Ashworth, R. G. et al. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat. Genet. 29, 377\u2013378 (2001).","journal-title":"Nat. Genet."},{"key":"BFjhg2012111_CR3","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1086\/302744","volume":"66","author":"M Kambouris","year":"2000","unstructured":"Kambouris, M., Bohega, S., Al-Tahan, A. & Meyer, B. F. Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. Am. J. Hum. Genet. 66, 445\u2013452 (2000).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg2012111_CR4","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1002\/ana.10676","volume":"54","author":"A Rolfs","year":"2003","unstructured":"Rolfs, A., Koeppen, A., Bauer, I., Bauer, P., Buhlmann, S., Topka, H. et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann. Neurol. 54, 367\u2013375 (2003).","journal-title":"Ann. Neurol."},{"key":"BFjhg2012111_CR5","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1038\/ncpneuro0606","volume":"3","author":"A Schneider","year":"2007","unstructured":"Schneider, A., Walker, R. & Bhatia, K. The Huntington\u2019s disease-like syndromes: what to consider in patients with a negative Huntington\u2019s disease gene test. Nat. Clin. Pract. Neurol. 3, 517\u2013525 (2007).","journal-title":"Nat. Clin. Pract. Neurol."},{"key":"BFjhg2012111_CR6","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1002\/ana.10824","volume":"55","author":"Y Toyoshima","year":"2004","unstructured":"Toyoshima, Y., Yamada, M., Onodera, O., Shimohata, M., Inenaga, C., Fujita, N. et al. SCA17 homozygote showing Huntington\u2019s disease-like phenotype. Ann. Neurol. 55, 281\u2013286 (2004).","journal-title":"Ann. Neurol."},{"key":"BFjhg2012111_CR7","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1002\/ana.21139","volume":"61","author":"A Rasmussen","year":"2007","unstructured":"Rasmussen, A., De Biase, I., Fragoso-Ben\u00edtez, M., Macias-Flores, M. A., Yescas, P., Ochoa, A. et al. Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. Ann. Neurol. 61, 607\u2013610 (2007).","journal-title":"Ann. Neurol."},{"key":"BFjhg2012111_CR8","doi-asserted-by":"publisher","first-page":"662","DOI":"10.1002\/ana.10184","volume":"51","author":"I Bauer","year":"2002","unstructured":"Bauer, I., Gencik, R. L., Laccone, F., Peters, H., Weber, B. H., Feder, E. H. et al. Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington\u2019s disease-like phenotype. Ann. Neurol. 51, 662 (2002).","journal-title":"Ann. Neurol."},{"key":"BFjhg2012111_CR9","doi-asserted-by":"publisher","first-page":"670","DOI":"10.1002\/ana.20248","volume":"56","author":"RL Margolis","year":"2004","unstructured":"Margolis, R. L., Holmes, S. E., Rosenblatt, A., Gourley, L., O'Hearn, E., Ross, C. A. et al. Huntington\u2019s disease-like 2 (HDL2) in North America and Japan. Ann. Neurol. 56, 670\u2013674 (2004).","journal-title":"Ann. Neurol."},{"key":"BFjhg2012111_CR10","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1007\/s10038-007-0227-1","volume":"53","author":"I Paradisi","year":"2008","unstructured":"Paradisi, I., Hern\u00e1ndez, A. & Arias, S. Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation. J. Hum. Genet. 53, 127\u2013135 (2008).","journal-title":"J. Hum. Genet."},{"key":"BFjhg2012111_CR11","doi-asserted-by":"publisher","first-page":"1441","DOI":"10.1093\/hmg\/10.14.1441","volume":"10","author":"K Nakamura","year":"2001","unstructured":"Nakamura, K., Jeong, S. Y., Uchihara, T., Anno, M., Nagashima, K., Nagashima, T. et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum. Mol. Genet. 10, 1441\u20131448 (2001).","journal-title":"Hum. Mol. Genet."},{"key":"BFjhg2012111_CR12","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/ng1196-285","volume":"14","author":"G Imbert","year":"1996","unstructured":"Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Garnier, J. M. et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG\/glutamine repeats. Nat. Genet. 14, 285\u2013291 (1996).","journal-title":"Nat. Genet."},{"key":"BFjhg2012111_CR13","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1038\/ng1194-221","volume":"8","author":"Y Kawaguchi","year":"1994","unstructured":"Kawaguchi, Y., Okamoto, T., Taniwaki, M., Aizawa, M., Inoue, M., Katayama, S. et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat. Genet. 8, 221\u2013227 (1994).","journal-title":"Nat. Genet."},{"key":"BFjhg2012111_CR14","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1038\/ng0194-14","volume":"6","author":"S Nagafuchi","year":"1994","unstructured":"Nagafuchi, S., Yanagisawa, H., Sato, K., Shirayama, T., Ohsaki, E., Bundo, M. et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat. Genet. 6, 14\u201318 (1994).","journal-title":"Nat. Genet."},{"key":"BFjhg2012111_CR15","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1098\/rsbl.2006.0609","volume":"3","author":"KB Schroeder","year":"2007","unstructured":"Schroeder, K. B., Schurr, T. G., Long, J. C., Rosenberg, N. A., Crawford, M. H., Tarskaia, L. P. et al. A private allele ubiquitous in the Americas. Biol. Lett. 3, 218\u2013223 (2007).","journal-title":"Biol. Lett."},{"key":"BFjhg2012111_CR16","doi-asserted-by":"publisher","first-page":"2083","DOI":"10.1002\/mds.21672","volume":"22","author":"S Bardien","year":"2007","unstructured":"Bardien, S., Abrahams, F., Soodyall, H., Merwe, L., Greenberg, J., Brink, T. et al. A South African mixed ancestry family with Huntington disease like-2: clinical and genetic features. Mov. Disord. 22, 2083\u20132089 (2007).","journal-title":"Mov. Disord."},{"key":"BFjhg2012111_CR17","first-page":"1","volume":"95","author":"M Mart\u00ed","year":"1969","unstructured":"Mart\u00ed, M. . Documentos relativos a su visita pastoral de la Di\u00f3cesis de Caracas, 1771\u20131784, I Libro personal. Bol. Acad. Nac. Hist. 95, 1\u2013637 (1969).","journal-title":"Bol. Acad. Nac. Hist."},{"key":"BFjhg2012111_CR18","first-page":"IX","volume":"95","author":"L G\u00f3mez-Canedo","year":"1969","unstructured":"G\u00f3mez-Canedo, L. . Introducci\u00f3n general In: Mart\u00ed M. Documentos relativos a su visita pastoral de la Di\u00f3cesis de Caracas 1771-1784, I Libro Personal Bol. Acad. Nac. Hist. 95, IX\u2013CXI Caracas (1969).","journal-title":"Bol. Acad. Nac. Hist."},{"key":"BFjhg2012111_CR19","unstructured":"Margolis, R. Huntington disease-like 2 2009. Available at: \n                    http:\/\/www.ncbi.nlm.nih.gov\/sites\/GeneTests\/review\n                    \n                   (Accessed 18 January 2012)."},{"key":"BFjhg2012111_CR20","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1097\/NEN.0b013e31816b4aee","volume":"67","author":"DD Rudnicki","year":"2008","unstructured":"Rudnicki, D. D., Pletnikova, O., Vonsattel, J. P., Ross, C. A. & Margolis, R. L. A comparison of Huntington disease-like 2 neuropathology. J. Neuropathol. Exp. Neurol. 67, 366\u2013374 (2008).","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"BFjhg2012111_CR21","doi-asserted-by":"publisher","first-page":"716","DOI":"10.1002\/mds.21915","volume":"23","author":"EJ Wild","year":"2008","unstructured":"Wild, E. J., Mudanohwo, E. E., Sweeney, M. G., Schneider, S. A., Beck, J., Bhatia, K. P. et al. Huntington\u2019s disease phenocopies are clinically and genetically heterogeneous. Mov. Disord. 23, 716\u2013720 (2008).","journal-title":"Mov. Disord."},{"key":"BFjhg2012111_CR22","first-page":"200","volume":"98","author":"DS Magazi","year":"2008","unstructured":"Magazi, D. S., Krause, A., Bonev, V., Moagi, M., Iqbal, Z. & van der Meyden, C. H. Huntington\u2019s disease: genetic heterogeneity in black African patients. S. Afr. Med. J. 98, 200\u2013203 (2008).","journal-title":"S. Afr. Med. J."},{"key":"BFjhg2012111_CR23","first-page":"1","volume":"14","author":"RL Margolis","year":"2005","unstructured":"Margolis, R. L., Rudnicki, D. D. & Holmes, S. Huntington\u2019s disease like-2: review and update. Acta Neurol. Taiw. 14, 1\u20138 (2005).","journal-title":"Acta Neurol. Taiw."},{"key":"BFjhg2012111_CR24","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1111\/j.1399-0004.2008.00981.x","volume":"73","author":"C Santos","year":"2008","unstructured":"Santos, C., Wanderley, H., Vedolin, L., Pena, S. D., Jardim, L. & Sequeiros, J. Huntington disease-like 2: the first patient with apparent European ancestry. Clin. Genet. 73, 480\u2013485 (2008).","journal-title":"Clin. Genet."},{"key":"BFjhg2012111_CR25","doi-asserted-by":"publisher","first-page":"345","DOI":"10.3378\/027.083.0302","volume":"83","author":"D Castro de Guerra","year":"2011","unstructured":"Castro de Guerra, D., Figuera P\u00e9rez, C., Izaguirre, M. H., Arroyo Batahona, E., Rodr\u00edguez Larralde, A. & V\u00edvenes de Lugo, M. Gender differences in ancestral contribution and admixture in Venezuelan populations. Hum. Biol. 83, 345\u2013361 (2011).","journal-title":"Hum. Biol."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg2012111.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg2012111","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg2012111.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:29:37Z","timestamp":1684430977000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg2012111"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,13]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["BFjhg2012111"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2012.111","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,13]]}}}